Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK
Department of Endocrinology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
BMJ Case Rep. 2022 Aug 17;15(8):e250870. doi: 10.1136/bcr-2022-250870.
A woman in her 50s with Turner syndrome was referred to the endocrine clinic, having been unaware of her diagnosis until she received a shielding letter from the UK government during the COVID-19 pandemic. Despite a neonatal diagnosis of Turner syndrome on her general practitioner record and despite having undergone laparoscopic examination for absent puberty and primary amenorrhoea aged 18 years, she had not received any prior hormone treatment or cardiovascular screening.Though Turner syndrome is rare, recent data from the UK Biobank suggest that it may be underdiagnosed. Clinicians should be aware of the clinical features and associated complications of Turner syndrome to avoid delayed diagnosis and missed opportunities for treatment.In this report, we discuss the clinical features of this rare syndrome and current guidelines for screening and treatment. We stress the importance of peer-to-peer support and information sharing through patient-led groups, such as the Turner Syndrome Support Society.
一位 50 多岁的特纳综合征女性患者被转介到内分泌科诊所，直到她在 COVID-19 大流行期间收到英国政府的屏蔽信，才意识到自己的诊断。尽管她的全科医生记录中有新生儿特纳综合征的诊断，并且在 18 岁时因青春期缺失和原发性闭经接受了腹腔镜检查，但她从未接受过任何先前的激素治疗或心血管筛查。尽管特纳综合征很罕见，但来自英国生物库的最新数据表明，它可能被误诊。临床医生应该了解特纳综合征的临床特征和相关并发症，以避免延迟诊断和错失治疗机会。在本报告中，我们讨论了这种罕见综合征的临床特征以及目前的筛查和治疗指南。我们强调了通过患者主导的团体（如特纳综合征支持协会）进行同伴支持和信息共享的重要性。
